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Unlocking Treatments for TSC: 2015 Strategic Plan

March 10–12, 2015Bethesda, Maryland

Workshop Summary

Introduction

Tuberous Sclerosis complex (TSC) is a rare, multi-system genetic disease that causes non-malignant tumors to form in the brain and other organs such as the kidneys, heart, eyes, lungs and skin. Symptoms include seizures, developmental delay, skin abnormalities, behavioral problems and kidney disease. While treatments are available for some disease symptoms, there is currently no cure for TSC. Research on TSC aims to develop new and improved treatments and to identify new ways of controlling or preventing the development of the disease and its manifestations.

Background

In response to a 2001 Congressional resolution, the NIH developed and published a Research Plan for Tuberous Sclerosis 2003, which included five broad goals with several sub goals aimed at guiding focused research in TSC.

Since 2004, NINDS has led trans-NIH Tuberous Sclerosis coordinating meetings, with representatives from NIH Institutes and Centers that support TS research, as well as representatives of the TS Alliance and the Department of Defense’s Tuberous Sclerosis Complex Research Program (TSCRP), within the Congressionally Directed Medical Research Program. These meetings allow discussion about research progress and priorities and enable participating funding organizations to coordinate efforts. At the most recent meeting held in February 2014, the major recommendation was to update the TSC Research Plan from 2003. To this end, the NIH, TSCRP, and the TS Alliance organized a workshop “Unlocking Treatments for TSC: 2015 Strategic Plan”, which took place on March 10-12, 2015, in Bethesda, Maryland.

Workshop Goals

The goal of this workshop was to bring together researchers in both academia and industry, clinicians, patient advocates, families and funding organizations to (a) assess the state of the field and review research progress to date on TSC; (b) identify the key challenges, needs and gaps, and new opportunities for the field; (c) develop strategies to address these challenges; (d) develop a new set of research priorities for the field; and (e) publish a white paper of the research priorities to inform TSC investigators, clinicians, major funding organizations, families and other stakeholders in the TSC field.

Planning Process and Workshop Format

In advance of the workshop, a planning committee facilitated discussions with working groups of researchers to identify initial priorities for research related to different types TSC manifestations: (1) Molecular Pathways & Therapeutic Opportunities; (2) Growth/Tumor Biology; (3) Neurocognition; and (4) Epilepsy. From the initial recommendations within these topics, five major focus areas emerged, and these were used to organize the workshop.

Five Focus Areas

Understanding phenotypic heterogeneity in TSC

Gaining a deeper knowledge of TSC signaling pathways

Improving TSC disease models

Developing clinical biomarkers for TSC

Facilitating therapeutics & clinical trials research

For each area, the workshop included short-talks and breakout sessions. During a final Breakout session, the original four working groups reconvened to finalize research recommendations and priorities. The TS Alliance reported on feedback collected from TSC patients and caregivers about disease priorities, and these perspectives were also integrated into the discussions about research priorities. A white paper of the final recommendations from the workshop will be published later this year.